Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex... See more...

Aliases for STXBP5 Gene

Aliases for STXBP5 Gene

  • Syntaxin Binding Protein 5 2 3 5
  • Lethal(2) Giant Larvae Protein Homolog 3 3 4
  • Syntaxin-Binding Protein 5 3 4
  • Tomosyn-1 3 4
  • LLGL3 3 4
  • Putative Protein Product Of Nbla04300 3
  • Nbla04300 3
  • Tomosyn 3
  • LGL3 3

External Ids for STXBP5 Gene

Previous GeneCards Identifiers for STXBP5 Gene

  • GC06P147372
  • GC06P147461
  • GC06P147505
  • GC06P147566
  • GC06P145089

Summaries for STXBP5 Gene

Entrez Gene Summary for STXBP5 Gene

  • Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for STXBP5 Gene

STXBP5 (Syntaxin Binding Protein 5) is a Protein Coding gene. Diseases associated with STXBP5 include Tongue Squamous Cell Carcinoma. Gene Ontology (GO) annotations related to this gene include syntaxin binding and syntaxin-1 binding. An important paralog of this gene is STXBP5L.

UniProtKB/Swiss-Prot Summary for STXBP5 Gene

  • Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity).

Gene Wiki entry for STXBP5 Gene

Additional gene information for STXBP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STXBP5 Gene

Genomics for STXBP5 Gene

GeneHancer (GH) Regulatory Elements for STXBP5 Gene

Promoters and enhancers for STXBP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J147201 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.8 760 7.7 ZBTB40 SP1 SIX5 ZBTB6 LCORL RBPJ SMARCE1 POLR2A CTBP1 ATF1 STXBP5 STXBP5-AS1 KATNBL1P6 RAB32 lnc-SHPRH-10 lnc-STXBP5-4 lnc-SAMD5-5
GH06J147387 Promoter 0.3 EPDnew 750.1 +183.3 183288 0.1 lnc-SAMD5-1 lnc-SAMD5-3 STXBP5 lnc-SHPRH-9
GH06J147126 Enhancer 1.1 FANTOM5 Ensembl ENCODE 21.1 -77.5 -77502 1.3 L3MBTL2 DACH1 TEAD4 SMARCA4 IKZF1 REST ATF1 HDAC1 NKRF SOX6 STXBP5 RF00017-5827 LUADT1 STXBP5-AS1
GH06J146897 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -305.9 -305948 1.2 SMARCE1 CC2D1A ELF1 DACH1 TEAD4 ZKSCAN8 GTF2F1 MLLT1 BACH1 CBFA2T2 STXBP5 STXBP5-AS1 RF00017-5828 lnc-ADGB-4 lnc-SHPRH-6 RF00017-5827
GH06J146874 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.2 -326.0 -326003 7.4 ZBTB40 SMARCE1 RUNX1 MYC CC2D1A ELF1 L3MBTL2 MAX DACH1 TEAD4 SHPRH STXBP5 STXBP5-AS1 LOC105378044 lnc-ADGB-4 ENSG00000227748 RF00017-5827
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STXBP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STXBP5 gene promoter:
  • C/EBPbeta
  • CUTL1
  • Elk-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-3
  • RP58
  • RSRFC4

Genomic Locations for STXBP5 Gene

Genomic Locations for STXBP5 Gene
chr6:147,204,358-147,390,476
(GRCh38/hg38)
Size:
186,119 bases
Orientation:
Plus strand
chr6:147,525,494-147,711,612
(GRCh37/hg19)
Size:
186,119 bases
Orientation:
Plus strand

Genomic View for STXBP5 Gene

Genes around STXBP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STXBP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STXBP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STXBP5 Gene

Proteins for STXBP5 Gene

  • Protein details for STXBP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5C0-STXB5_HUMAN
    Recommended name:
    Syntaxin-binding protein 5
    Protein Accession:
    Q5T5C0
    Secondary Accessions:
    • Q14DF3
    • Q5T5C1
    • Q5T5C2
    • Q8NBG8
    • Q96NG9

    Protein attributes for STXBP5 Gene

    Size:
    1151 amino acids
    Molecular mass:
    127573 Da
    Quaternary structure:
    • Interacts with STX1A and STX1B via its v-SNARE homology domain. Part of a complex that contains STX1, STXBP5, SNAP25 and SYT1. Part of a complex that contains STXBP5, STX4A and SNAP23 (By similarity).
    SequenceCaution:
    • Sequence=BAC03475.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for STXBP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STXBP5 Gene

Post-translational modifications for STXBP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STXBP5 Gene

Domains & Families for STXBP5 Gene

Gene Families for STXBP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for STXBP5 Gene

GenScript: Design optimal peptide antigens:
  • Syntaxin binding protein 5 (Tomosyn) (Q14DD4_HUMAN)
  • Syntaxin binding protein 5 (Tomosyn) (Q5JRH0_HUMAN)
  • Syntaxin binding protein 5 (Tomosyn) (Q5JRH1_HUMAN)
  • Tomosyn-1 (STXB5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T5C0

UniProtKB/Swiss-Prot:

STXB5_HUMAN :
  • Belongs to the WD repeat L(2)GL family.
Family:
  • Belongs to the WD repeat L(2)GL family.
genes like me logo Genes that share domains with STXBP5: view

Function for STXBP5 Gene

Molecular function for STXBP5 Gene

UniProtKB/Swiss-Prot Function:
Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity).

Phenotypes From GWAS Catalog for STXBP5 Gene

Gene Ontology (GO) - Molecular Function for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0005515 protein binding IEA --
GO:0017075 syntaxin-1 binding ISS --
GO:0017137 Rab GTPase binding IBA 21873635
GO:0019905 syntaxin binding IBA 21873635
genes like me logo Genes that share ontologies with STXBP5: view
genes like me logo Genes that share phenotypes with STXBP5: view

Animal Models for STXBP5 Gene

MGI Knock Outs for STXBP5:

Animal Model Products

CRISPR Products

miRNA for STXBP5 Gene

miRTarBase miRNAs that target STXBP5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STXBP5 Gene

Localization for STXBP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STXBP5 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cell junction, synapse. Note=Cytoplasmic, and associated with vesicular membranes and the plasma membrane. Detected at synapses and on synaptic vesicles (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STXBP5 gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 1
nucleus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA 21873635
GO:0005892 acetylcholine-gated channel complex ISS --
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with STXBP5: view

Pathways & Interactions for STXBP5 Gene

PathCards logo

SuperPathways for STXBP5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for STXBP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0017157 regulation of exocytosis TAS,IBA 15217342
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with STXBP5: view

No data available for Pathways by source and SIGNOR curated interactions for STXBP5 Gene

Drugs & Compounds for STXBP5 Gene

(1) Drugs for STXBP5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
genes like me logo Genes that share compounds with STXBP5: view

Transcripts for STXBP5 Gene

mRNA/cDNA for STXBP5 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STXBP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: -
SP6:
SP7:

ExUns: 24b ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6: -
SP7:

Relevant External Links for STXBP5 Gene

GeneLoc Exon Structure for
STXBP5
ECgene alternative splicing isoforms for
STXBP5

Expression for STXBP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STXBP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STXBP5 Gene

This gene is overexpressed in Frontal cortex (24.7), Peripheral blood mononuclear cells (11.3), Brain (6.6), and Platelet (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STXBP5 Gene



Protein tissue co-expression partners for STXBP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of STXBP5 Gene:

STXBP5

SOURCE GeneReport for Unigene cluster for STXBP5 Gene:

Hs.86320

Evidence on tissue expression from TISSUES for STXBP5 Gene

  • Nervous system(4.7)
  • Blood(4.2)
  • Liver(4.1)
  • Pancreas(2.7)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with STXBP5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STXBP5 Gene

Orthologs for STXBP5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STXBP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STXBP5 33 32
  • 99.74 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STXBP5 33
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STXBP5 33
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STXBP5 33 32
  • 94.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STXBP5 33 32
  • 93.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stxbp5 32
  • 89.37 (n)
mouse
(Mus musculus)
Mammalia Stxbp5 17 33 32
  • 88.88 (n)
chicken
(Gallus gallus)
Aves STXBP5 33 32
  • 84.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STXBP5 33
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stxbp5 32
  • 80.6 (n)
zebrafish
(Danio rerio)
Actinopterygii stxbp5b 33
  • 76 (a)
OneToMany
stxbp5a 33 32
  • 72.5 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000009 32
  • 51.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta tomosyn 33 32
  • 50.93 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tom-1 33
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRO77 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 41 (a)
OneToMany
Species where no ortholog for STXBP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STXBP5 Gene

ENSEMBL:
Gene Tree for STXBP5 (if available)
TreeFam:
Gene Tree for STXBP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STXBP5: view image

Paralogs for STXBP5 Gene

Paralogs for STXBP5 Gene

(4) SIMAP similar genes for STXBP5 Gene using alignment to 6 proteins:

  • STXB5_HUMAN
  • H0Y332_HUMAN
  • H7BXC4_HUMAN
  • Q14DD4_HUMAN
  • Q3B794_HUMAN
  • Q5JRH0_HUMAN
genes like me logo Genes that share paralogs with STXBP5: view

Variants for STXBP5 Gene

Sequence variations from dbSNP and Humsavar for STXBP5 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs750530435 uncertain-significance, not provided 147,363,348(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1000000394 -- 147,228,889(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000012574 -- 147,331,416(+) T/G intron_variant
rs1000023110 -- 147,287,505(+) A/G intron_variant
rs1000049361 -- 147,240,578(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for STXBP5 Gene

Variant ID Type Subtype PubMed ID
dgv6160n100 CNV loss 25217958
esv2548254 CNV deletion 19546169
esv2662896 CNV deletion 23128226
esv2732842 CNV deletion 23290073
esv274916 CNV gain+loss 21479260
esv3611165 CNV loss 21293372
esv3611166 CNV loss 21293372
esv3611167 CNV loss 21293372
esv3890961 CNV gain 25118596
nsv470864 CNV loss 18288195
nsv522406 CNV loss 19592680
nsv604840 CNV loss 21841781
nsv823857 CNV loss 20364138
nsv830839 CNV gain 17160897

Variation tolerance for STXBP5 Gene

Residual Variation Intolerance Score: 3.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.54; 88.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STXBP5 Gene

Human Gene Mutation Database (HGMD)
STXBP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STXBP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STXBP5 Gene

Disorders for STXBP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STXBP5 Gene - From: LncRNADisease and DISEASES

Disorder Aliases PubMed IDs
tongue squamous cell carcinoma
  • squamous cell carcinoma of tongue
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for STXBP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STXBP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STXBP5 Gene

Publications for STXBP5 Gene

  1. Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. (PMID: 14767561) Katoh M … Katoh M (International journal of oncology 2004) 2 3 23 56
  2. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. (PMID: 20231535) Smith NL … O'Donnell CJ (Circulation 2010) 3 43 56
  3. Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer. (PMID: 20463552) Wu C … Lin D (Pharmacogenetics and genomics 2010) 3 43 56
  4. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. (PMID: 20694014) Thye T … Hill AVS (Nature genetics 2010) 3 43 56
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56

Products for STXBP5 Gene

Sources for STXBP5 Gene